(Q50515711)

14 March 2018

title

Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities. (English)

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Gavin Ha

object named as

Gavin Ha

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Kasmintan A Schrader

object named as

Kasmintan A Schrader

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author name string

Alireza Heravi-Moussavi

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Paula J Waters

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Janine Senz

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James Whelan

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Patrice Eydoux

7

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Torsten Nielsen

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Barry Gallagher

9

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Arusha Oloumi

10

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Niki Boyd

11

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Bridget A Fernandez

12

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Steven Jm Jones

14

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Martin Hirst

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Sohrab P Shah

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Marco A Marra

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Jane Green

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David G Huntsman

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publication date

1 September 2011

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published in

Journal of Pathology

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volume

225

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issue

1

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page(s)

12-18

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describes a project that uses

massive parallel sequencing

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based on heuristic

inferred from title

cites work

Exome sequencing identifies the cause of a mendelian disorder

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Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

21 January 2018

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Mapping short DNA sequencing reads and calling variants using mapping quality scores

21 January 2018

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The Sequence Alignment/Map format and SAMtools

21 January 2018

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SNVMix: predicting single nucleotide variants from next-generation sequencing of tumors

21 January 2018

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Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)

21 January 2018

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Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes

21 January 2018

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A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site

21 January 2018

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Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.

21 January 2018

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Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma

21 January 2018

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Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations

21 January 2018

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Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma

21 January 2018

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Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity.

21 January 2018

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Comparative pathology of murine mucolipidosis types II and IIIC

21 January 2018

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Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering

21 January 2018

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Mice lacking alpha/beta subunits of GlcNAc-1-phosphotransferase exhibit growth retardation, retinal degeneration, and secretory cell lesions

21 January 2018

1 reference

Cone-rod dystrophy, growth hormone deficiency and spondyloepiphyseal dysplasia: report of a new case without nephronophtisis.

21 January 2018

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Spondylometaphyseal dysplasia with cone-rod dystrophy

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/PATH.2941

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14 March 2018

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14 March 2018